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Abstract(s)
O raquitismo hipofosfatémico ligado ao X (XLH) é uma doença hereditária rara associada a mutações do gene PHEX, elevação dos níveis séricos do fator de crescimento fibroblástico 23 (FGF23) e, consequentemente, perda renal de fosfato, hipofosfatémia e raquitismo. O quadro clínico é caracterizado por baixa estatura, deformidades ósseas, alterações dentárias e malformações cranianas . Apesar de ser a forma hereditária de raquitismo mais prevalente, é uma doença ainda subdiagnosticada. A suplementação oral de fosfato e vitamina-D foi usada para o tratamento destes doentes. Contudo, esta terapêutica convencional tem um efeito limitado no prognóstico destes doentes e associa-se a importantes efeitos adversos, incluindo nefrocalcinose. O burosumab, um anticorpo monoclonal anti-FGF23 recentemente desenvolvido, foi aprovado para o tratamento do XLH, uma vez que aumenta os níveis séricos de fosfato e melhora o raquitismo. Neste trabalho é feita uma revisão do XLH e a descrição da sua atual gestão terapêutica.
X-linked hypophosphatemic rickets (XLH) is a rare hereditary disorder caused by mutations of the gene PHEX, elevation of FGF23 and subsequently renal phosphate wasting, hypophosphatemia and rickets. Disease presentation commonly includes short stature, bone deformities, dental abnormalities and cranial malformations. Despite being the most prevalent form of hereditary rickets, XLH is still underdiagnosed. Oral phosphate and vitamin-D supplementation was used for the treatment of these patients. However, this conventional therapy has a limited effect on the ouctome of these patients and it is associated with important side effects, including nephrocalcinosis. Burosumab, a recently developed anti-FGF23 monoclonal antibody, was approved for the treatment of XLH, since it increases the phosphatemia and improves rickets. In this thesis, we present a brief review of X-linked hyphophosphatemia and its current therapeutic management.
X-linked hypophosphatemic rickets (XLH) is a rare hereditary disorder caused by mutations of the gene PHEX, elevation of FGF23 and subsequently renal phosphate wasting, hypophosphatemia and rickets. Disease presentation commonly includes short stature, bone deformities, dental abnormalities and cranial malformations. Despite being the most prevalent form of hereditary rickets, XLH is still underdiagnosed. Oral phosphate and vitamin-D supplementation was used for the treatment of these patients. However, this conventional therapy has a limited effect on the ouctome of these patients and it is associated with important side effects, including nephrocalcinosis. Burosumab, a recently developed anti-FGF23 monoclonal antibody, was approved for the treatment of XLH, since it increases the phosphatemia and improves rickets. In this thesis, we present a brief review of X-linked hyphophosphatemia and its current therapeutic management.
Description
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2021
Keywords
Raquitismo hipofosfatémico ligado ao X Fator de crescimento fibroblástico 23 (FGF23) Burosumab